16664[HGNC] - ClinVar

Search results

Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 1050095	NC_000002.12:g.31171210T>C	CAPN14	Single nucleotide variant	not provided	GUncertain significance
Select item 2557520	NM_001145122.2(CAPN14):c.2038A>G (p.Met680Val)	CAPN14 (M504V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137099	NM_001145122.2(CAPN14):c.2032A>G (p.Met678Val)	CAPN14 (M502V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319849	NM_001145122.2(CAPN14):c.2010A>G (p.Ile670Met)	CAPN14 (I494M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137098	NM_001145122.2(CAPN14):c.2000G>T (p.Gly667Val)	CAPN14 (G491V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137097	NM_001145122.2(CAPN14):c.1966A>G (p.Met656Val)	CAPN14 (M656V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137096	NM_001145122.2(CAPN14):c.1950G>T (p.Met650Ile)	CAPN14 (M650I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514537	NM_001145122.2(CAPN14):c.1948A>G (p.Met650Val)	CAPN14 (M474V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291584	NM_001145122.2(CAPN14):c.1946T>G (p.Leu649Trp)	CAPN14 (L473W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260707	NM_001145122.2(CAPN14):c.1940T>A (p.Ile647Asn)	CAPN14 (I471N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263189	NM_001145122.2(CAPN14):c.1903G>A (p.Gly635Ser)	CAPN14 (G459S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463888	NM_001145122.2(CAPN14):c.1898G>T (p.Arg633Leu)	CAPN14 (R633L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137095	NM_001145122.2(CAPN14):c.1835A>G (p.His612Arg)	CAPN14 (H436R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2335841	NM_001145122.2(CAPN14):c.1834C>T (p.His612Tyr)	CAPN14 (H436Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137094	NM_001145122.2(CAPN14):c.1801C>G (p.Arg601Gly)	CAPN14 (R601G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345142	NM_001145122.2(CAPN14):c.1744T>C (p.Phe582Leu)	CAPN14 (F582L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235655	NM_001145122.2(CAPN14):c.1570A>T (p.Thr524Ser)	CAPN14 (T524S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333262	NM_001145122.2(CAPN14):c.1532A>T (p.Glu511Val)	CAPN14 (E335V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137090	NM_001145122.2(CAPN14):c.1519G>A (p.Val507Ile)	CAPN14 (V331I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137089	NM_001145122.2(CAPN14):c.1423C>T (p.Pro475Ser)	CAPN14 (P299S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283165	NM_001145122.2(CAPN14):c.1318G>A (p.Glu440Lys)	CAPN14 (E264K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717612	NM_001145122.2(CAPN14):c.1249C>T (p.Leu417Phe)	CAPN14 (L417F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3137088	NM_001145122.2(CAPN14):c.1246C>A (p.Pro416Thr)	CAPN14 (P240T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390583	NM_001145122.2(CAPN14):c.1234C>T (p.Arg412Cys)	CAPN14 (R412C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137086	NM_001145122.2(CAPN14):c.1201G>A (p.Val401Met)	CAPN14 (V401M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137085	NM_001145122.2(CAPN14):c.1168G>T (p.Gly390Cys)	CAPN14 (G214C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263191	NM_001145122.2(CAPN14):c.1162G>C (p.Glu388Gln)	CAPN14 (E212Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2237275	NM_001145122.2(CAPN14):c.1160C>T (p.Pro387Leu)	CAPN14 (P211L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263192	NM_001145122.2(CAPN14):c.1153T>G (p.Trp385Gly)	CAPN14 (W385G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383679	NM_001145122.2(CAPN14):c.991G>A (p.Val331Ile)	CAPN14 (V331I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137106	NM_001145122.2(CAPN14):c.976C>T (p.His326Tyr)	CAPN14 (H150Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468524	NM_001145122.2(CAPN14):c.956C>T (p.Thr319Met)	CAPN14 (T319M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272515	NM_001145122.2(CAPN14):c.945A>T (p.Glu315Asp)	CAPN14 (E139D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263188	NM_001145122.2(CAPN14):c.898A>G (p.Ser300Gly)	CAPN14 (S300G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274447	NM_001145122.2(CAPN14):c.866G>T (p.Trp289Leu)	CAPN14 (W289L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137105	NM_001145122.2(CAPN14):c.829C>T (p.Arg277Trp)	CAPN14 (R277W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308012	NM_001145122.2(CAPN14):c.800A>G (p.Lys267Arg)	CAPN14 (K267R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137104	NM_001145122.2(CAPN14):c.790G>C (p.Val264Leu)	CAPN14 (V264L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531323	NM_001145122.2(CAPN14):c.783C>G (p.Ile261Met)	CAPN14 (I85M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557820	NM_001145122.2(CAPN14):c.758G>T (p.Gly253Val)	CAPN14 (G77V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256215	NM_001145122.2(CAPN14):c.706G>A (p.Gly236Ser)	CAPN14 (G60S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555898	NM_001145122.2(CAPN14):c.697A>G (p.Thr233Ala)	CAPN14 (T233A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137103	NM_001145122.2(CAPN14):c.679G>A (p.Glu227Lys)	CAPN14 (E227K +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2391535	NM_001145122.2(CAPN14):c.559G>T (p.Gly187Cys)	CAPN14 (G11C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780816	NM_001145122.2(CAPN14):c.555C>T (p.Leu185=)	CAPN14	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2484377	NM_001145122.2(CAPN14):c.516G>T (p.Leu172Phe)	CAPN14 (L172F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231486	NM_001145122.2(CAPN14):c.510G>C (p.Lys170Asn)	CAPN14 (K170N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488936	NM_001145122.2(CAPN14):c.508A>G (p.Lys170Glu)	CAPN14 (K170E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278237	NM_001145122.2(CAPN14):c.473A>C (p.Glu158Ala)	CAPN14 (E158A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215249	NM_001145122.2(CAPN14):c.472G>A (p.Glu158Lys)	CAPN14 (E158K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291881	NM_001145122.2(CAPN14):c.458G>A (p.Arg153His)	CAPN14 (R153H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137102	NM_001145122.2(CAPN14):c.454G>A (p.Asp152Asn)	CAPN14 (D152N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206387	NM_001145122.2(CAPN14):c.406C>T (p.Arg136Trp)	CAPN14 (R136W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410025	NM_001145122.2(CAPN14):c.358G>A (p.Val120Ile)	CAPN14 (V120I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214155	NM_001145122.2(CAPN14):c.356G>A (p.Arg119Gln)	CAPN14 (R119Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309874	NM_001145122.2(CAPN14):c.355C>T (p.Arg119Trp)	CAPN14 (R119W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137101	NM_001145122.2(CAPN14):c.344A>G (p.Asp115Gly)	CAPN14 (D115G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137100	NM_001145122.2(CAPN14):c.305G>T (p.Trp102Leu)	CAPN14 (W102L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263187	NM_001145122.2(CAPN14):c.223C>T (p.Pro75Ser)	CAPN14 (P75S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137092	NM_001145122.2(CAPN14):c.170G>A (p.Gly57Asp)	CAPN14 (G57D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137091	NM_001145122.2(CAPN14):c.166A>G (p.Ile56Val)	CAPN14 (I56V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524889	NM_001145122.2(CAPN14):c.151G>A (p.Ala51Thr)	CAPN14 (A51T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263186	NM_001145122.2(CAPN14):c.149C>T (p.Pro50Leu)	CAPN14 (P50L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263190	NM_001145122.2(CAPN14):c.110G>A (p.Cys37Tyr)	CAPN14 (C37Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263193	NM_001145122.2(CAPN14):c.103G>A (p.Ala35Thr)	CAPN14 (A35T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258441	NM_001145122.2(CAPN14):c.41C>G (p.Ala14Gly)	CAPN14 (A14G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3263194	NM_001145122.2(CAPN14):c.5C>G (p.Ser2Cys)	CAPN14 (S2C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 3062647	GRCh37/hg19 2p23.1-21(chr2:30814984-42798684)x1	ARHGEF33, ATL2 +52 more	Copy number loss	not specified	GPathogenic
Select item 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	not provided	GPathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1527803	GRCh37/hg19 2p23.2-21(chr2:29899368-42441440)	ALK, ARHGEF33 +52 more	Copy number loss	not specified	GPathogenic
Select item 1340335	GRCh37/hg19 2p23.1(chr2:31431801-31661595)x1	CAPN14, EHD3 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1340275	GRCh37/hg19 2p23.1(chr2:30878949-31608905)x3	CAPN13, CAPN14 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1220534	GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3	OTOF, OXER1 +131 more	Copy number gain	See cases	GPathogenic
Select item 1176757	GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3	DNAJC27, DNAJC5G +131 more	Copy number gain	not provided	GLikely pathogenic
Select item 814228	GRCh37/hg19 2p23.1(chr2:31274044-31549757)x3	GALNT14, CAPN14 +1 more	Copy number gain	not provided	GUncertain significance
Select item 689338	GRCh37/hg19 2p23.1(chr2:31434360-31658788)x1	CAPN14, EHD3 +1 more	Copy number loss	not provided	GUncertain significance
Select item 687905	GRCh37/hg19 2p23.1(chr2:31281703-31789508)x1	CAPN14, EHD3 +3 more	Copy number loss	not provided	GUncertain significance
Select item 687302	GRCh37/hg19 2p23.2-22.2(chr2:29940473-36813297)x1	ALK, BIRC6 +21 more	Copy number loss	not provided	GPathogenic
Select item 685459	GRCh37/hg19 2p23.1(chr2:31434360-31658788)x1	CAPN14, EHD3 +1 more	Copy number loss	not provided	GUncertain significance
Select item 562660	GRCh37/hg19 2p23.2-22.3(chr2:29240004-32380876)x1	SPAST, ALK +14 more	Copy number loss	not provided	GPathogenic
Select item 547174	inv(2)(p21p23.2)	RASGRP3, HNRNPLL +52 more	Inversion	Endometrial carcinoma	GLikely pathogenic
Select item 487484	t(2;2)(p23;p21)(hg19 chr2:g.42552694::ochr2:g.29446394)	ALK, ARHGEF33 +52 more	Inversion	Small cell lung carcinoma	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442853	GRCh37/hg19 2p23.1(chr2:31435578-31661595)x1	CAPN14, EHD3 +1 more	Copy number loss	See cases	GLikely benign
Select item 402127	GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3	ABCG5, ABCG8 +139 more	Copy number gain	See cases	GPathogenic
Select item 394466	GRCh37/hg19 2p23.2-21(chr2:28069882-43543420)x3	ALK, ARHGEF33 +70 more	Copy number gain	See cases	GPathogenic
Select item 253814	GRCh37/hg19 2p23.1(chr2:30371106-31490282)x3	CAPN13, GALNT14 +5 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Items: 95